Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17849502
rs17849502
NCF2 ; SMG7
5 0.827 0.240 1 183563445 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 3.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2002 2002
dbSNP: rs2069827
rs2069827
IL6 ; STEAP1B ; IL6-AS1
1 1.000 0.040 7 22725837 non coding transcript exon variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2230926
rs2230926
TNFAIP3
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs2234650
rs2234650
IL1R1
2 0.925 0.080 2 102141867 5 prime UTR variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2294020
rs2294020
CCDC22
10 0.763 0.280 X 49246763 missense variant A/G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs2409781
rs2409781
BLK
2 0.925 0.120 8 11502048 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs2431098
rs2431098 		5 0.827 0.240 5 160460329 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2596480
rs2596480 		3 0.925 0.120 6 31458208 intron variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs2651804
rs2651804 		1 1.000 0.040 11 2327389 downstream gene variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs267607656
rs267607656
KRT1
2 0.925 0.080 12 52675439 inframe deletion GTAGCTGCTACCTCCGGAGCC/- delins 0.010 1.000 1 2017 2017
dbSNP: rs3027898
rs3027898
IRAK1
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.010 < 0.001 1 2018 2018
dbSNP: rs3130573
rs3130573
PSORS1C1 ; PSORS1C2
1 1.000 0.040 6 31138491 non coding transcript exon variant A/C;G snv 8.1E-06; 0.33 0.800 1.000 1 2011 2011
dbSNP: rs34551253
rs34551253
TRPM5
2 0.925 0.080 11 2415234 missense variant C/A;T snv 2.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs34826052
rs34826052
CD22 ; MIR5196
1 1.000 0.040 19 35345697 synonymous variant C/A;T snv 4.0E-02; 7.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs35705950
rs35705950 		14 0.763 0.240 11 1219991 splice region variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs35929052
rs35929052 		5 0.827 0.160 16 85960878 downstream gene variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs35979293
rs35979293
CD19 ; RABEP2
2 0.925 0.080 16 28933379 synonymous variant G/A;T snv 3.2E-05; 0.30 0.010 1.000 1 2012 2012
dbSNP: rs3745274
rs3745274
CYP2B6
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 1.000 1 2017 2017
dbSNP: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs378299
rs378299
ICOSLG
3 0.882 0.160 21 44241460 upstream gene variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs4554699
rs4554699 		2 0.925 0.040 1 161638578 intergenic variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs4958880
rs4958880
TNIP1
4 0.851 0.160 5 151058916 intron variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs540386
rs540386
TRAF6
4 0.851 0.200 11 36503743 intron variant C/G;T snv 0.010 < 0.001 1 2012 2012